Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02075:Kcnh5'

185958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh5

Ensembl Gene

ENSMUSG00000034402

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 5

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02075

Quality Score

Status

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75134379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 390 (Y390C)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042299]

AlphaFold

Q920E3

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: Y390C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: Y390C

Domain	Start	End	E-Value	Type
PAS	14	86	8.97e0	SMART
PAC	92	134	6.64e-7	SMART
Pfam:Ion_trans	214	479	1.2e-37	PFAM
Pfam:Ion_trans_2	390	473	5e-14	PFAM
cNMP	550	668	2.48e-15	SMART
low complexity region	710	717	N/A	INTRINSIC
coiled coil region	907	944	N/A	INTRINSIC
low complexity region	953	968	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	A	G	13: 48,114,224 (GRCm39)		noncoding transcript	Het
Abcd4	A	T	12: 84,655,578 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,254,667 (GRCm39)	M1548K	probably benign	Het
Als2	A	G	1: 59,246,945 (GRCm39)	S565P	probably damaging	Het
Atm	T	C	9: 53,438,537 (GRCm39)	I126M	probably damaging	Het
Btbd9	G	A	17: 30,493,910 (GRCm39)	R494*	probably null	Het
Coro1c	G	T	5: 113,982,454 (GRCm39)	R461S	probably damaging	Het
Gtf2h1	A	G	7: 46,451,165 (GRCm39)	K19E	probably damaging	Het
Kcnc1	A	G	7: 46,077,397 (GRCm39)	T400A	probably damaging	Het
Ly75	G	T	2: 60,182,700 (GRCm39)	S534R	probably damaging	Het
Mapk15	A	G	15: 75,866,737 (GRCm39)	E38G	probably benign	Het
Or9i2	T	A	19: 13,815,830 (GRCm39)	T236S	probably damaging	Het
Otof	A	T	5: 30,528,070 (GRCm39)	N1924K	probably benign	Het
Plekhm2	T	A	4: 141,355,617 (GRCm39)	H861L	probably benign	Het
Pramel25	T	A	4: 143,521,602 (GRCm39)	F406Y	probably benign	Het
Rufy4	A	T	1: 74,168,518 (GRCm39)	K100N	probably damaging	Het
Sptbn1	T	C	11: 30,088,496 (GRCm39)	E879G	probably damaging	Het
Stab2	T	C	10: 86,803,514 (GRCm39)	N345S	possibly damaging	Het
Tacc2	C	T	7: 130,330,582 (GRCm39)	P1996S	probably benign	Het
Tfcp2	A	G	15: 100,411,061 (GRCm39)		probably benign	Het
Trpm8	A	G	1: 88,253,210 (GRCm39)	T100A	probably damaging	Het
Trrap	A	G	5: 144,765,304 (GRCm39)	T2507A	probably benign	Het
Vmn2r118	T	C	17: 55,917,517 (GRCm39)	T332A	probably benign	Het
Zfp189	T	A	4: 49,522,445 (GRCm39)	D27E	probably damaging	Het

Other mutations in Kcnh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kcnh5	APN	12	74,944,570 (GRCm39)	missense	probably benign	0.00
IGL00675:Kcnh5	APN	12	75,160,963 (GRCm39)	critical splice donor site	probably null
IGL00688:Kcnh5	APN	12	74,945,171 (GRCm39)	missense	probably benign	0.01
IGL00721:Kcnh5	APN	12	75,054,450 (GRCm39)	missense	probably benign	0.32
IGL00793:Kcnh5	APN	12	75,161,120 (GRCm39)	missense	probably damaging	0.99
IGL00802:Kcnh5	APN	12	75,054,399 (GRCm39)	missense	possibly damaging	0.62
IGL00920:Kcnh5	APN	12	75,023,267 (GRCm39)	missense	probably damaging	1.00
IGL01595:Kcnh5	APN	12	74,945,101 (GRCm39)	missense	probably benign	0.05
IGL01642:Kcnh5	APN	12	75,011,943 (GRCm39)	missense	probably damaging	0.98
IGL01675:Kcnh5	APN	12	75,161,274 (GRCm39)	nonsense	probably null
IGL01733:Kcnh5	APN	12	75,011,966 (GRCm39)	missense	probably benign	0.02
IGL02006:Kcnh5	APN	12	74,944,322 (GRCm39)	missense	probably damaging	0.99
IGL02148:Kcnh5	APN	12	74,944,426 (GRCm39)	missense	possibly damaging	0.86
IGL02155:Kcnh5	APN	12	75,223,312 (GRCm39)	utr 5 prime	probably benign
IGL02304:Kcnh5	APN	12	75,023,471 (GRCm39)	missense	probably benign	0.01
IGL02957:Kcnh5	APN	12	75,054,439 (GRCm39)	missense	probably benign	0.01
R0305:Kcnh5	UTSW	12	75,161,171 (GRCm39)	missense	probably benign	0.00
R0470:Kcnh5	UTSW	12	75,161,188 (GRCm39)	missense	probably benign	0.22
R0553:Kcnh5	UTSW	12	75,184,447 (GRCm39)	missense	probably benign	0.00
R0557:Kcnh5	UTSW	12	75,161,323 (GRCm39)	missense	probably damaging	1.00
R0590:Kcnh5	UTSW	12	75,012,035 (GRCm39)	missense	probably damaging	1.00
R0697:Kcnh5	UTSW	12	75,023,305 (GRCm39)	missense	possibly damaging	0.80
R0699:Kcnh5	UTSW	12	75,023,305 (GRCm39)	missense	possibly damaging	0.80
R1512:Kcnh5	UTSW	12	75,166,711 (GRCm39)	missense	probably benign
R1728:Kcnh5	UTSW	12	75,184,465 (GRCm39)	missense	probably benign	0.18
R1739:Kcnh5	UTSW	12	75,161,003 (GRCm39)	missense	probably damaging	1.00
R1784:Kcnh5	UTSW	12	75,184,465 (GRCm39)	missense	probably benign	0.18
R1956:Kcnh5	UTSW	12	74,944,358 (GRCm39)	missense	probably benign	0.01
R1957:Kcnh5	UTSW	12	74,944,358 (GRCm39)	missense	probably benign	0.01
R2155:Kcnh5	UTSW	12	74,945,230 (GRCm39)	critical splice acceptor site	probably null
R2185:Kcnh5	UTSW	12	75,177,705 (GRCm39)	missense	possibly damaging	0.95
R2237:Kcnh5	UTSW	12	75,054,493 (GRCm39)	missense	probably benign	0.00
R2239:Kcnh5	UTSW	12	75,054,493 (GRCm39)	missense	probably benign	0.00
R2483:Kcnh5	UTSW	12	75,161,245 (GRCm39)	missense	probably damaging	1.00
R2655:Kcnh5	UTSW	12	75,161,314 (GRCm39)	missense	probably damaging	1.00
R3767:Kcnh5	UTSW	12	75,134,350 (GRCm39)	missense	possibly damaging	0.81
R3835:Kcnh5	UTSW	12	74,945,044 (GRCm39)	missense	probably benign
R4681:Kcnh5	UTSW	12	75,054,397 (GRCm39)	missense	probably benign	0.00
R4728:Kcnh5	UTSW	12	75,054,555 (GRCm39)	missense	probably damaging	1.00
R4965:Kcnh5	UTSW	12	75,011,925 (GRCm39)	missense	probably benign	0.11
R5127:Kcnh5	UTSW	12	74,944,858 (GRCm39)	missense	probably benign	0.17
R5267:Kcnh5	UTSW	12	75,134,190 (GRCm39)	missense	probably damaging	0.98
R5535:Kcnh5	UTSW	12	75,177,681 (GRCm39)	missense	possibly damaging	0.76
R5590:Kcnh5	UTSW	12	75,023,463 (GRCm39)	missense	probably benign	0.05
R5684:Kcnh5	UTSW	12	75,184,423 (GRCm39)	missense	probably damaging	1.00
R5747:Kcnh5	UTSW	12	74,945,194 (GRCm39)	missense	probably benign	0.04
R6123:Kcnh5	UTSW	12	75,134,365 (GRCm39)	missense	probably benign	0.01
R6545:Kcnh5	UTSW	12	75,054,432 (GRCm39)	missense	probably damaging	1.00
R6662:Kcnh5	UTSW	12	75,054,385 (GRCm39)	missense	probably damaging	1.00
R7117:Kcnh5	UTSW	12	75,161,219 (GRCm39)	missense	possibly damaging	0.87
R7161:Kcnh5	UTSW	12	74,944,483 (GRCm39)	missense	probably benign	0.10
R7437:Kcnh5	UTSW	12	75,184,417 (GRCm39)	critical splice donor site	probably null
R7557:Kcnh5	UTSW	12	75,054,399 (GRCm39)	missense	possibly damaging	0.62
R7566:Kcnh5	UTSW	12	75,161,166 (GRCm39)	nonsense	probably null
R7591:Kcnh5	UTSW	12	75,054,541 (GRCm39)	missense	probably benign	0.24
R7781:Kcnh5	UTSW	12	75,023,455 (GRCm39)	missense	probably damaging	0.99
R7816:Kcnh5	UTSW	12	75,023,457 (GRCm39)	missense	probably damaging	1.00
R8152:Kcnh5	UTSW	12	74,944,633 (GRCm39)	missense	possibly damaging	0.68
R8390:Kcnh5	UTSW	12	75,134,532 (GRCm39)	missense	probably damaging	1.00
R8560:Kcnh5	UTSW	12	75,023,379 (GRCm39)	missense	probably damaging	1.00
R9056:Kcnh5	UTSW	12	74,944,774 (GRCm39)	missense	probably benign	0.00
R9064:Kcnh5	UTSW	12	75,177,727 (GRCm39)	nonsense	probably null
R9283:Kcnh5	UTSW	12	75,023,307 (GRCm39)	missense	probably damaging	1.00
R9290:Kcnh5	UTSW	12	75,023,488 (GRCm39)	missense	probably benign	0.00
R9552:Kcnh5	UTSW	12	75,023,334 (GRCm39)	missense	probably benign	0.28
R9576:Kcnh5	UTSW	12	74,944,307 (GRCm39)	missense	probably benign	0.00
R9627:Kcnh5	UTSW	12	75,160,990 (GRCm39)	missense	probably damaging	0.99
R9645:Kcnh5	UTSW	12	75,134,191 (GRCm39)	missense	probably benign	0.32
R9650:Kcnh5	UTSW	12	75,023,293 (GRCm39)	missense	probably benign	0.32
Z1088:Kcnh5	UTSW	12	75,012,069 (GRCm39)	missense	possibly damaging	0.78
Z1088:Kcnh5	UTSW	12	74,944,535 (GRCm39)	missense	probably benign	0.00
Z1177:Kcnh5	UTSW	12	75,161,296 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnh5	UTSW	12	75,054,571 (GRCm39)	missense	possibly damaging	0.90

Posted On

2014-05-07